BACKGROUND: Newborn screening for hemoglobinopathy in Brazil has been decentralized until 2001 when the Health Ministry of Brazil established the National Newborn Hemoglobinopathy Screening Program. The State of Rio de Janeiro started a program in collaboration with the State Health Department and the Institute of Hematology in Rio (HEMORIO). The goal of this study was to evaluate the effectiveness of the first 10 years of the Newborn Hemoglobinopathy Screening Program in identifying and managing infants with Sickle cell disease (SCD) in the State of Rio de Janeiro. PROCEDURE: Blood samples from 1,217,833 neonates were analyzed by High Performance Liquid Chromatography. Infants with SCD were enrolled in comprehensive treatment programs. RESULTS: Data showed that 4.87% of the newborns were heterozygous for a hemoglobin variant, 0.08% were homozygous or doubly heterozygous for abnormal hemoglobins and 95.02% had normal hemoglobin. All the 912 newborns with SCD were referred for treatment at HEMORIO, 34 (3.7%) of these died due to acute chest syndrome, sepsis or splenic sequestration. Four more children died of unknown causes. The implementation of the Rio de Janeiro Newborn Screening Program gradually increased the area of the State covered by the program. CONCLUSION: Data collected during the 10 years of the program showed reduction in mortality of patients with SCD in comparison to available historical statistical data before the implementation of the national screening program. This 10-year study showed that early diagnosis and treatment of newborns was associated with improved survival and quality of life of Brazilian children with SCD.
BACKGROUND: Newborn screening for hemoglobinopathy in Brazil has been decentralized until 2001 when the Health Ministry of Brazil established the National Newborn Hemoglobinopathy Screening Program. The State of Rio de Janeiro started a program in collaboration with the State Health Department and the Institute of Hematology in Rio (HEMORIO). The goal of this study was to evaluate the effectiveness of the first 10 years of the Newborn Hemoglobinopathy Screening Program in identifying and managing infants with Sickle cell disease (SCD) in the State of Rio de Janeiro. PROCEDURE: Blood samples from 1,217,833 neonates were analyzed by High Performance Liquid Chromatography. Infants with SCD were enrolled in comprehensive treatment programs. RESULTS: Data showed that 4.87% of the newborns were heterozygous for a hemoglobin variant, 0.08% were homozygous or doubly heterozygous for abnormal hemoglobins and 95.02% had normal hemoglobin. All the 912 newborns with SCD were referred for treatment at HEMORIO, 34 (3.7%) of these died due to acute chest syndrome, sepsis or splenic sequestration. Four more children died of unknown causes. The implementation of the Rio de Janeiro Newborn Screening Program gradually increased the area of the State covered by the program. CONCLUSION: Data collected during the 10 years of the program showed reduction in mortality of patients with SCD in comparison to available historical statistical data before the implementation of the national screening program. This 10-year study showed that early diagnosis and treatment of newborns was associated with improved survival and quality of life of Brazilian children with SCD.
Authors: Lewis L Hsu; Nancy S Green; E Donnell Ivy; Cindy E Neunert; Arlene Smaldone; Shirley Johnson; Sheila Castillo; Amparo Castillo; Trevor Thompson; Kisha Hampton; John J Strouse; Rosalyn Stewart; TaLana Hughes; Sonja Banks; Kim Smith-Whitley; Allison King; Mary Brown; Kwaku Ohene-Frempong; Wally R Smith; Molly Martin Journal: Am J Prev Med Date: 2016-07 Impact factor: 5.043
Authors: Susan T Paulukonis; James R Eckman; Angela B Snyder; Ward Hagar; Lisa B Feuchtbaum; Mei Zhou; Althea M Grant; Mary M Hulihan Journal: Public Health Rep Date: 2016 Mar-Apr Impact factor: 2.792
Authors: Claudia Frömmel; Annemarie Brose; Jeannette Klein; Oliver Blankenstein; Stephan Lobitz Journal: Biomed Res Int Date: 2014-07-23 Impact factor: 3.411
Authors: Sara D Khangura; Beth K Potter; Christine Davies; Robin Ducharme; A Brianne Bota; Steven Hawken; Kumanan Wilson; Maria D Karaceper; Robert J Klaassen; Julian Little; Ewurabena Simpson; Pranesh Chakraborty Journal: BMC Pediatr Date: 2021-07-01 Impact factor: 2.125